Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189333 | SCV000242968 | uncertain significance | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000636391 | SCV000757830 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys246*) in the SLC25A22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A22 are known to be pathogenic (PMID: 15592994, 19780765). This variant is present in population databases (rs796053242, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. ClinVar contains an entry for this variant (Variation ID: 207174). For these reasons, this variant has been classified as Pathogenic. |
ARUP Laboratories, |
RCV000189333 | SCV000886124 | likely pathogenic | not provided | 2018-05-30 | criteria provided, single submitter | clinical testing | The SLC25A22 c.735_736delCT; p.Cys246Ter variant (rs796053242), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is reported in the ClinVar Database (Variation ID: 207174), but is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes two nucleotides leading to an immediate termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as likely pathogenic. Pathogenic SLC25A22 variants are causative for autosomal recessive early infantile epileptic encephalopathy (MIM: 609304). |